CAJ | 학술논문

目的探讨胎儿鼻骨缺失或发育不良与染色体异常的相关性,以及胎儿鼻骨缺失或发育不良进行产前诊断的必要性. 方法 2010年1月至2014年4月,广州市妇女儿童医疗中心通过产前超声检查共检出胎儿鼻骨缺失或发育不良187例,所有孕妇均建议行介入性产前诊断及妊娠中期胎儿超声结构筛查,并于预产期后3个月进行随访.采用描述性分析及x2检验分析胎儿鼻骨缺失或发育不良与唐氏综合征的关系,及合并其他结构异常对染色体核型异常的影响. 结果 187例胎儿鼻骨缺失或发育不良孕妇中126例接受介入性产前诊断,另61例未行产前诊断.126例接受产前诊断病例中共检出胎儿染色体核型异常36例(28.6％),其中21-三体26例(20.6％),18-三体6例(4.8％),13-三体3例(2.4％),性染色体嵌合体1例(0.8％).126例接受产前诊断病例中,合并其他超声结构异常的胎儿染色体异常发生率高于不合并其他超声结构异常的胎儿[44.4％(28/63)与12.7％(8/63),x2=15.556,P=0.000].在63例不合并其他超声结构异常的单纯鼻骨缺失或发育不良病例中,14例唐氏综合征筛查(简称唐筛)高风险,其中7例产前诊断证实染色体异常;39例唐筛低风险病例中胎儿染色体核型均未见异常;另外10例未行唐筛而直接行产前诊断者中,仅检出1例胎儿染色体核型异常(性染色体嵌合体).妊娠早期检出鼻骨缺失或发育不良胎儿染色体异常发生率高于妊娠中、晚期检出者[25.5％(28/110)与10.4％(8/77),x2=6.613,P=0.007]. 结论检出胎儿鼻骨缺失或发育不良时,有必要进行唐筛及详细的胎儿超声结构筛查.如胎儿鼻骨缺失或发育不良合并其他超声结构异常或唐筛高风险,应进行产前诊断排除染色体异常.
목적 탐토태인비골결실혹발육불량여염색체이상적상관성,이급태인비골결실혹발육불량진행산전진단적필요성. 방법 2010년1월지2014년4월,엄주시부녀인동의료중심통과산전초성검사공검출태인비골결실혹발육불량187례,소유잉부균건의행개입성산전진단급임신중기태인초성결구사사,병우예산기후3개월진행수방.채용묘술성분석급x2검험분석태인비골결실혹발육불량여당씨종합정적관계,급합병기타결구이상대염색체핵형이상적영향. 결과 187례태인비골결실혹발육불량잉부중126례접수개입성산전진단,령61례미행산전진단.126례접수산전진단병례중공검출태인염색체핵형이상36례(28.6％),기중21-삼체26례(20.6％),18-삼체6례(4.8％),13-삼체3례(2.4％),성염색체감합체1례(0.8％).126례접수산전진단병례중,합병기타초성결구이상적태인염색체이상발생솔고우불합병기타초성결구이상적태인[44.4％(28/63)여12.7％(8/63),x2=15.556,P=0.000].재63례불합병기타초성결구이상적단순비골결실혹발육불량병례중,14례당씨종합정사사(간칭당사)고풍험,기중7례산전진단증실염색체이상;39례당사저풍험병례중태인염색체핵형균미견이상;령외10례미행당사이직접행산전진단자중,부검출1례태인염색체핵형이상(성염색체감합체).임신조기검출비골결실혹발육불량태인염색체이상발생솔고우임신중、만기검출자[25.5％(28/110)여10.4％(8/77),x2=6.613,P=0.007]. 결론 검출태인비골결실혹발육불량시,유필요진행당사급상세적태인초성결구사사.여태인비골결실혹발육불량합병기타초성결구이상혹당사고풍험,응진행산전진단배제염색체이상.
Objective To investigate the relationship between absent or hypoplastic fetal nasal bone and chromosome abnormalities.Methods From January 2010 to April 2014,187 fetuses were found to have absent or hypoplastic nasal bone by prenatal ultrasound scanning in Guangzhou Maternal and Children's Hospital.All the pregnant women should undergo interventional prenatal diagnosis for fetal chromosome abnormalities,and should be followed up for three months after the expected delivery date.The correlation between absent or hypoplastic fetal nasal bone and chromosome abnormalities,and the effects of complicating structural defects were analyzed by descriptive analysis and the Chi-square test.Results Of the 187 pregnant women,126 underwent interventional prenatal diagnostic tests,and fetal chromosome abnormalities were detected in 36 cases (28.6％),including 26 cases (20.6％) of trisomy 21,6 cases (4.8％) of trisomy 18,three cases (2.4％) of trisomy 13 and one sex chromosome chimerism.In the 126 cases received prenatal diagnosis,the incidence of chromosome abnormalities in fetuses without other structural defects was significantly lower than that with structural defects [12.7％ (8/63) vs 44.4％ (28/63),x2=15.556,P=0.000].Among 63 cases without other structural defects,seven fetuses were confirmed to have chromosome abnormalities in 14 women with high risk by Down syndrome screening,no chromosome abnormalities were found in 39 pregnant women with low risk by Down syndrome screening,and one sex chromosome chimerism was found in the other ten women who did not undergo Down syndrome screening.Absent or hypoplastic nasal bone detected in the first trimester resulted in a higher risk of chromosome abnormalities than that detected in the second and the third trimester [25.5％ (28/110) vs 10.4％ (8/77),x2=6.613,P=0.007].Conclusions When a fetus is found to have absent or hypoplastic nasal bone,it is necessary to perform Down syndrome screening and a detailed morphology scan.Women shown to have fetuses with absent or hypoplastic nasal bone with other structural defects or high risk by Down syndrome screening should undergo prenatal diagnostic tests to exclude fetal chromosome abnormalities.